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White matter disorders and cerebral calcification - narrow panel v0.11 PEX19 Ellen McDonagh gene: PEX19 was added
gene: PEX19 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber
Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX19 were set to Peroxisome biogenesis disorder 12A (Zellweger)
White matter disorders and cerebral calcification - narrow panel v0.11 PEX16 Ellen McDonagh gene: PEX16 was added
gene: PEX16 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX16 were set to Peroxisome-Associated Disorders & Zellweger Syndrome; Peroxisome biogenesis disorder 8A, (Zellweger); Peroxisome biogenesis disorder 8B; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9
White matter disorders and cerebral calcification - narrow panel v0.11 PEX14 Ellen McDonagh gene: PEX14 was added
gene: PEX14 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber
Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX14 were set to 15146459
Phenotypes for gene: PEX14 were set to Peroxisome-Associated Disorders & Zellweger Syndrome; PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
White matter disorders and cerebral calcification - narrow panel v0.11 PEX13 Ellen McDonagh gene: PEX13 was added
gene: PEX13 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX13 were set to 25655951
Phenotypes for gene: PEX13 were set to Peroxisome-Associated Disorders & Zellweger Syndrome; Peroxisome biogenesis disorder 11A (Zellweger); Peroxisome biogenesis disorder 11B
White matter disorders and cerebral calcification - narrow panel v0.11 PEX12 Ellen McDonagh gene: PEX12 was added
gene: PEX12 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX12 were set to 25655951
Phenotypes for gene: PEX12 were set to Peroxisome-Associated Disorders & Zellweger Syndrome; Peroxisome biogenesis disorder 3A (Zellweger); General Leukodystrophy & Mitochondrial Leukoencephalopathy; Peroxisome biogenesis disorder 3B; Peroxisome biogenesis disorder 3A,B
White matter disorders and cerebral calcification - narrow panel v0.11 PEX10 Ellen McDonagh gene: PEX10 was added
gene: PEX10 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX10 were set to 25655951
Phenotypes for gene: PEX10 were set to Peroxisome-Associated Disorders & Zellweger Syndrome; ZELLWEGER SYNDROME; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7
White matter disorders and cerebral calcification - narrow panel v0.11 PEX1 Ellen McDonagh gene: PEX1 was added
gene: PEX1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX1 were set to 25655951
Phenotypes for gene: PEX1 were set to Peroxisome-Associated Disorders & Zellweger Syndrome; Peroxisome biogenesis disorder 1A,B; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Peroxisome biogenesis disorder 1A (Zellweger)